Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria.

Molecular genetics and metabolism - 1 Nov 2012

Dempsey-Nunez Laura, Illson Margaret L, Kent Jana, Huang Qiuying, Brebner Alison, Watkins David, Gilfix Brian M, Wittwer Carl T, Rosenblatt David S

Abstract excerpt

The gene product of MMAA is required for the intracellular metabolism of cobalamin (Cbl). Mutations in this gene lead to the cblA class of disorders, characterized by isolated methylmalonic aciduria. We have been concerned that somatic cell methods of diagnosis may miss patients with mild cellular phenotypes. A high resolution melting analysis (HRMA) assay was developed to rapidly scan the coding exons and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Metabolism, Inborn Errors
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Introns

Share to Methylmalonic Acid

Share to Mitochondrial Membrane Transport Proteins

Share to Nucleic Acid Denaturation

Share to Vitamin B 12

Source

Identifiers

PMID: 23026888
DOI: 10.1016/j.ymgme.2012.09.012

Genes

MMAA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria.PMID 23026888Read ↗

High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.Semantic proximity Read ↗

Rapid screening of MMACHC gene mutations by high-resolution melting curve analysis.Semantic proximity Read ↗

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.Semantic proximity Read ↗

[Rapid screening of a hotspot variant c.609G>A in MMACHC gene by using PCR-high-resolution melting curve analysis].Semantic proximity Read ↗

High resolution melting analysis for gene scanning.Semantic proximity Read ↗

Direct genotyping of single nucleotide polymorphisms in methyl metabolism genes using probe-free high-resolution melting analysis.Semantic proximity Read ↗

Is high resolution melting analysis (HRMA) accurate for detection of human disease-associated mutations? A meta analysis.Semantic proximity Read ↗

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.Semantic proximity Read ↗

Identification of rare and frequent variants of the CASR gene by high-resolution melting.Semantic proximity Read ↗

Comparison of high-resolution melting analysis with direct sequencing for the detection of recurrent mutations in DNA methyltransferase 3A and isocitrate dehydrogenase 1 and 2 genes in acute myeloid leukemia patients.Semantic proximity Read ↗

Identifying and predicting the pathogenic effects of a novel variant inducing severe early onset MMA: a bioinformatics approach.Semantic proximity Read ↗

Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.